ACLY — 135 ClinVar variants
All ClinVar germline ACLY variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
5 Benign · 2 Likely benign · 128 Uncertain significance
Full ACLY gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 87
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACLY p.Ala1032Thr Uncertain significance Single submitter
- ACLY p.Ala173Ser Uncertain significance Single submitter
- ACLY p.Ala173Thr Uncertain significance Single submitter
- ACLY p.Ala24Thr Uncertain significance Single submitter
- ACLY p.Ala432Thr Uncertain significance Single submitter
- ACLY p.Ala461Val Uncertain significance Single submitter
- ACLY p.Ala467Thr Uncertain significance Single submitter
- ACLY p.Ala528Thr Uncertain significance Single submitter
- ACLY p.Ala589Val Uncertain significance Single submitter
- ACLY p.Ala763Val Uncertain significance Single submitter
- ACLY p.Ala93Asp Uncertain significance Single submitter
- ACLY p.Ala943Thr Uncertain significance Single submitter
- ACLY p.Arg576Cys Uncertain significance Single submitter
- ACLY p.Arg592Gln Uncertain significance Single submitter
- ACLY p.Arg653His Uncertain significance Single submitter
- ACLY p.Arg65Cys Uncertain significance Single submitter
- ACLY p.Arg703Cys Uncertain significance Single submitter
- ACLY p.Arg703His Uncertain significance Single submitter
- ACLY p.Arg729Gln Uncertain significance Single submitter
- ACLY p.Arg788Trp Uncertain significance Single submitter
- ACLY p.Asn1058Ser Uncertain significance Single submitter
- ACLY p.Asn190Ser Uncertain significance Single submitter
- ACLY p.Asn299Lys Uncertain significance Single submitter
- ACLY p.Asn807Ser Uncertain significance Single submitter
- ACLY p.Asp1005Asn Uncertain significance Single submitter
- ACLY p.Asp130Tyr Uncertain significance Single submitter
- ACLY p.Asp235Asn Uncertain significance Single submitter
- ACLY p.Gln615Glu Uncertain significance Single submitter
- ACLY p.Gln615Leu Uncertain significance Single submitter
- ACLY p.Gln61Arg Uncertain significance Single submitter
- ACLY p.Glu137Lys Uncertain significance Single submitter
- ACLY p.Glu300Lys Uncertain significance Single submitter
- ACLY p.Glu458Gln Uncertain significance Single submitter
- ACLY p.Glu802Gly Uncertain significance Single submitter
- ACLY p.Gly129Arg Uncertain significance Single submitter
- ACLY p.Gly143Asp Uncertain significance Single submitter
- ACLY p.Gly443Arg Uncertain significance Single submitter
- ACLY p.Gly641Trp Uncertain significance Single submitter
- ACLY p.Gly871Arg Uncertain significance Single submitter
- ACLY p.Ile1022Thr Uncertain significance Single submitter
- ACLY p.Ile228Leu Uncertain significance Single submitter
- ACLY p.Ile361Val Uncertain significance Single submitter
- ACLY p.Ile500Val Uncertain significance Single submitter
- ACLY p.Ile550Val Uncertain significance Single submitter
- ACLY p.Ile620Ser Uncertain significance Single submitter
- ACLY p.Ile620Thr Uncertain significance Single submitter
- ACLY p.Ile727Val Uncertain significance Single submitter
- ACLY p.Ile853Met Uncertain significance Single submitter
- ACLY p.Ile890Leu Uncertain significance Single submitter
- ACLY p.Ile931Thr Uncertain significance Single submitter
- ACLY p.Leu153Phe Uncertain significance Single submitter
- ACLY p.Leu609Met Uncertain significance Single submitter
- ACLY p.Leu793Phe Uncertain significance Single submitter
- ACLY p.Leu833Phe Uncertain significance Single submitter
- ACLY p.Leu929Pro Uncertain significance Single submitter
- ACLY p.Lys396Arg Uncertain significance Single submitter
- ACLY p.Met583Val Uncertain significance Single submitter
- ACLY p.Met666Val Uncertain significance Single submitter
- ACLY p.Met957Val Uncertain significance Single submitter
- ACLY p.Phe238Leu Uncertain significance Single submitter
- ACLY p.Pro241His Uncertain significance Single submitter
- ACLY p.Pro472Ala Uncertain significance Single submitter
- ACLY p.Pro693Leu Uncertain significance Single submitter
- ACLY p.Ser446Leu Uncertain significance Single submitter
- ACLY p.Ser459Pro Uncertain significance Single submitter
- ACLY p.Ser478Leu Uncertain significance Single submitter
- ACLY p.Ser695Pro Uncertain significance Single submitter
- ACLY p.Thr10Met Uncertain significance Single submitter
- ACLY p.Thr497Ala Uncertain significance Single submitter
- ACLY p.Thr737Asn Uncertain significance Single submitter
- ACLY p.Thr820Ala Uncertain significance Single submitter
- ACLY p.Tyr192Cys Uncertain significance Single submitter
- ACLY p.Tyr213His Uncertain significance Single submitter
- ACLY p.Tyr364Asp Uncertain significance Single submitter
- ACLY p.Val221Met Uncertain significance Single submitter
- ACLY p.Val415Met Uncertain significance Single submitter
- ACLY p.Val464Leu Uncertain significance Single submitter
- ACLY p.Val464Met Uncertain significance Single submitter
- ACLY p.Val509Met Uncertain significance Single submitter
- ACLY p.Val715Ala Uncertain significance Single submitter
- ACLY p.Val741Ile Uncertain significance Single submitter
- ACLY p.Val773Ile Uncertain significance Single submitter
- ACLY p.Val811Leu Uncertain significance Single submitter
- ACLY p.Val994Ile Uncertain significance Single submitter
- ACLY p.Ala589Thr Uncertain significance No assertion criteria
- ACLY p.Ala916Val Uncertain significance No assertion criteria
- ACLY p.Arg495His Uncertain significance No assertion criteria
Predictors split 31
The independent predictors disagree with each other — read with care.
- ACLY p.Ala557Val Uncertain significance Single submitter
- ACLY p.Ala595Thr Uncertain significance Single submitter
- ACLY p.Arg1045Gly Uncertain significance Single submitter
- ACLY p.Arg329Gly Uncertain significance Single submitter
- ACLY p.Arg422Gln Uncertain significance Single submitter
- ACLY p.Arg495Cys Uncertain significance Single submitter
- ACLY p.Arg676Trp Uncertain significance Single submitter
- ACLY p.Asn75Ser Uncertain significance Single submitter
- ACLY p.Asn75Thr Uncertain significance Single submitter
- ACLY p.Asn766Ser Uncertain significance Single submitter
- ACLY p.Asp164Tyr Uncertain significance Single submitter
- ACLY p.Glu237Lys Uncertain significance Single submitter
- ACLY p.Gly399Glu Uncertain significance Single submitter
- ACLY p.Gly953Ser Uncertain significance Single submitter
- ACLY p.Ile1052Thr Uncertain significance Single submitter
- ACLY p.Ile339Val Uncertain significance Single submitter
- ACLY p.Ile548Met Uncertain significance Single submitter
- ACLY p.Ile629Met Uncertain significance Single submitter
- ACLY p.Leu324Val Uncertain significance Single submitter
- ACLY p.Lys151Gln Uncertain significance Single submitter
- ACLY p.Lys650Gln Uncertain significance Single submitter
- ACLY p.Met985Ile Uncertain significance Single submitter
- ACLY p.Phe634Leu Uncertain significance Single submitter
- ACLY p.Pro1096Leu Uncertain significance Single submitter
- ACLY p.Pro174Ser Uncertain significance Single submitter
- ACLY p.Thr397Ile Uncertain significance Single submitter
- ACLY p.Thr94Ile Uncertain significance Single submitter
- ACLY p.Tyr124Cys Uncertain significance Single submitter
- ACLY p.Tyr659Phe Uncertain significance Single submitter
- ACLY p.Val171Asp Uncertain significance Single submitter
- ACLY p.Ala218Thr Uncertain significance No assertion criteria
All ACLY variants
Benign 5
- p.Gln314= Multiple submitters
- p.Val286= Multiple submitters
- c.866+7G>A Single submitter
- p.Ile550= Single submitter
- p.Leu804= Single submitter
Likely benign 2
- p.Leu269= Single submitter
- p.Tyr682Cys Single submitter
Uncertain significance 128
- p.Ala1032Thr Single submitter ⚠
- p.Ala173Ser Single submitter ⚠
- p.Ala173Thr Single submitter ⚠
- p.Ala24Thr Single submitter ⚠
- p.Ala432Thr Single submitter ⚠
- p.Ala461Val Single submitter ⚠
- p.Ala467Thr Single submitter ⚠
- p.Ala528Thr Single submitter ⚠
- p.Ala557Val Single submitter ⚠
- p.Ala589Val Single submitter ⚠
- p.Ala595Thr Single submitter ⚠
- p.Ala763Val Single submitter ⚠
- p.Ala93Asp Single submitter ⚠
- p.Ala943Thr Single submitter ⚠
- p.Arg1045Gly Single submitter ⚠
- p.Arg329Gly Single submitter ⚠
- p.Arg422Gln Single submitter ⚠
- p.Arg495Cys Single submitter ⚠
- p.Arg576Cys Single submitter ⚠
- p.Arg592Gln Single submitter ⚠
- p.Arg653His Single submitter ⚠
- p.Arg65Cys Single submitter ⚠
- p.Arg676Trp Single submitter ⚠
- p.Arg703Cys Single submitter ⚠
- p.Arg703His Single submitter ⚠
- p.Arg729Gln Single submitter ⚠
- p.Arg788Trp Single submitter ⚠
- p.Asn1058Ser Single submitter ⚠
- p.Asn190Ser Single submitter ⚠
- p.Asn299Lys Single submitter ⚠
- p.Asn75Ser Single submitter ⚠
- p.Asn75Thr Single submitter ⚠
- p.Asn766Ser Single submitter ⚠
- p.Asn807Ser Single submitter ⚠
- p.Asp1005Asn Single submitter ⚠
- p.Asp130Tyr Single submitter ⚠
- p.Asp164Tyr Single submitter ⚠
- p.Asp235Asn Single submitter ⚠
- p.Gln615Glu Single submitter ⚠
- p.Gln615Leu Single submitter ⚠
- p.Gln61Arg Single submitter ⚠
- p.Glu137Lys Single submitter ⚠
- p.Glu237Lys Single submitter ⚠
- p.Glu300Lys Single submitter ⚠
- p.Glu458Gln Single submitter ⚠
- p.Glu802Gly Single submitter ⚠
- p.Gly129Arg Single submitter ⚠
- p.Gly143Asp Single submitter ⚠
- p.Gly399Glu Single submitter ⚠
- p.Gly443Arg Single submitter ⚠
- p.Gly641Trp Single submitter ⚠
- p.Gly871Arg Single submitter ⚠
- p.Gly953Ser Single submitter ⚠
- p.Ile1022Thr Single submitter ⚠
- p.Ile1052Thr Single submitter ⚠
- p.Ile228Leu Single submitter ⚠
- p.Ile339Val Single submitter ⚠
- p.Ile361Val Single submitter ⚠
- p.Ile500Val Single submitter ⚠
- p.Ile548Met Single submitter ⚠
- p.Ile550Val Single submitter ⚠
- p.Ile620Ser Single submitter ⚠
- p.Ile620Thr Single submitter ⚠
- p.Ile629Met Single submitter ⚠
- p.Ile727Val Single submitter ⚠
- p.Ile853Met Single submitter ⚠
- p.Ile890Leu Single submitter ⚠
- p.Ile931Thr Single submitter ⚠
- p.Leu153Phe Single submitter ⚠
- p.Leu324Val Single submitter ⚠
- p.Leu609Met Single submitter ⚠
- p.Leu793Phe Single submitter ⚠
- p.Leu833Phe Single submitter ⚠
- p.Leu929Pro Single submitter ⚠
- p.Lys151Gln Single submitter ⚠
- p.Lys396Arg Single submitter ⚠
- p.Lys650Gln Single submitter ⚠
- p.Met583Val Single submitter ⚠
- p.Met666Val Single submitter ⚠
- p.Met957Val Single submitter ⚠
- p.Met985Ile Single submitter ⚠
- p.Phe238Leu Single submitter ⚠
- p.Phe634Leu Single submitter ⚠
- p.Phe950Ser Single submitter
- p.Pro1096Leu Single submitter ⚠
- p.Pro174Ser Single submitter ⚠
- p.Pro241Ala Single submitter
- p.Pro241His Single submitter ⚠
- p.Pro472Ala Single submitter ⚠
- p.Pro693Leu Single submitter ⚠
- p.Ser446Leu Single submitter ⚠
- p.Ser457Phe Single submitter
- p.Ser459Pro Single submitter ⚠
- p.Ser478Leu Single submitter ⚠
- p.Ser695Pro Single submitter ⚠
- p.Thr10Met Single submitter ⚠
- p.Thr397Ile Single submitter ⚠
- p.Thr497Ala Single submitter ⚠
- p.Thr737Asn Single submitter ⚠
- p.Thr820Ala Single submitter ⚠
- p.Thr94Ile Single submitter ⚠
- p.Tyr124Cys Single submitter ⚠
- p.Tyr192Cys Single submitter ⚠
- p.Tyr213His Single submitter ⚠
- p.Tyr364Asp Single submitter ⚠
- p.Tyr659Phe Single submitter ⚠
- p.Val156Met Single submitter
- p.Val171Asp Single submitter ⚠
- p.Val221Met Single submitter ⚠
- p.Val415Met Single submitter ⚠
- p.Val464Leu Single submitter ⚠
- p.Val464Met Single submitter ⚠
- p.Val509Met Single submitter ⚠
- p.Val715Ala Single submitter ⚠
- p.Val741Ile Single submitter ⚠
- p.Val773Ile Single submitter ⚠
- p.Val811Leu Single submitter ⚠
- p.Val994Ile Single submitter ⚠
- c.-67C>T No assertion criteria
- p.Ala218Thr No assertion criteria ⚠
- p.Ala465= No assertion criteria
- p.Ala589Thr No assertion criteria ⚠
- p.Ala916Val No assertion criteria ⚠
- p.Arg495His No assertion criteria ⚠
- p.Gly155= No assertion criteria
- p.Lys965= No assertion criteria
- p.Ser263= No assertion criteria
- p.Thr374= No assertion criteria